Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EEF2K

Variant:p.H23R

EEF2K

101 papers

RefSeq Summary

This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regula...

Pfam Domains

Alpha_kinaseaa 139–318UCSCAlpha-kinase family

Gene Aliases

HGNC Name

eukaryotic elongation factor 2 kinase

HGNC Alias Symbols

eEF-2K; CaMKIII

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

5 papers

chr16:22225797 A>G

NM_013302.5

p.H23R

c.68A>G

Exome: 9.9% (AC=144622, hom=9796)Genome: 16.8% (AC=25580, hom=2992)5 overlapping SVs

Surrounding Variants

1 paper

chr16:22225781 TC>T

NM_013302.5

p.S18delFs

c.53delC

Exome: 0.0% (AC=1, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr16:22225730 A>G

NM_013302.5

p.M1V

c.1A>G

Exome: 0.0% (AC=8, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr16:22225893 A>T

NM_013302.5

p.K55M

c.164A>T

exact variant not in gnomAD5 overlapping SVs

1 paper

chr16:22225931 C>T

NM_013302.5

p.R68W

c.202C>T

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=4, hom=0)5 overlapping SVs

4 papers

chr16:22225952 C>G

NM_013302.5

p.P75A

c.223C>G

Exome: 8.8% (AC=129190, hom=7049)Genome: 8.1% (AC=12388, hom=757)5 overlapping SVs

2 papers

chr16:22225961 T>G

NM_013302.5

p.S78A

c.232T>G

exact variant not in gnomAD5 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."